Steinert myotonic dystrophy syndrome

disorder

SNOMED 77956009CUI C3250443

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Muscle weakness

Always present (100%)HP:0001324

Abnormality of cardiac conduction system

Very frequent (80-99%)HP:0031546

EMG: myotonic discharges

Very frequent (80-99%)HP:0100284

Excessive daytime somnolence

Very frequent (80-99%)HP:0001262

Myotonia with warm-up phenomenon

Very frequent (80-99%)HP:0003740

Posterior subcapsular cataracts

Very frequent (80-99%)HP:0007787

Weakness of outermost muscles

Very frequent (80-99%)HP:0002460

Abnormal REM sleep

Frequent (30-79%)HP:0002494

Abnormality of masticatory muscle

Frequent (30-79%)HP:0410011

Atrial flutter

Frequent (30-79%)HP:0004749

Behavioral symptoms

Frequent (30-79%)HP:0000708

Cognitive deficits

Frequent (30-79%)HP:0100543

Fatigable weakness of bulbar muscles

Frequent (30-79%)HP:0030192

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Gait disturbance

Frequent (30-79%)HP:0001288

Impairment in personality functioning

Frequent (30-79%)HP:0031466

Inability to heel walk

Frequent (30-79%)HP:0009027

Lengthened PR interval on EKG

Frequent (30-79%)HP:0012248

Muscle pain

Frequent (30-79%)HP:0003326

Obstructive sleep apnea

Frequent (30-79%)HP:0002870

Prolonged QRS complex on EKG

Frequent (30-79%)HP:0006677

Quivering upper heart chambers resulting in irregular heartbeat

Frequent (30-79%)HP:0005110

Tiredness

Frequent (30-79%)HP:0012378

Weakness of face

Frequent (30-79%)HP:0030319

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal thyroid function

Occasional (5-29%)HP:0002926

Abnormality of lingual muscle

Occasional (5-29%)HP:0040173

Abnormality of the cerebral white matter

Occasional (5-29%)HP:0002500

ASD

Occasional (5-29%)HP:0000729

Bilateral facial weakness

Occasional (5-29%)HP:0001349

Related Conditions

Congenital myotonic dystrophy(child)

Adult-onset Steinert disease(child)

Childhood-onset Steinert disease(child)

Juvenile-onset Steinert disease(child)

Late-onset myotonic dystrophy type 1(child)

DM - dystrophia myotonica(parent)

Quick Facts

SNOMED CT: 77956009
UMLS CUI: C3250443
Fully Specified Name: Steinert myotonic dystrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.